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DOID:0060225 - 3MC syndrome
Disease Ontology Definition:A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
Synonyms: craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome, oculopalatoskeletal syndrome
Xenbase Genes
:
colec10,
colec11,
masp1
| MONDO:0017398 - 3MC syndrome |
| MIM:265050 - 3MC SYNDROME 2; 3MC2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)